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Intellectual disability

Gene: GPATCH11

Amber List (moderate evidence)
GPATCH11 (G-patch domain containing 11)
EnsemblGeneIds (GRCh38): ENSG00000152133
EnsemblGeneIds (GRCh37): ENSG00000152133
GPATCH11 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Created: 3 Feb 2025, 10:56 p.m. | Last Modified: 3 Feb 2025, 10:56 p.m.
Panel Version: 8.66
Comment on publications: PMID:39572588 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 3 Feb 2025, 10:55 p.m. | Last Modified: 3 Feb 2025, 10:55 p.m.
Panel Version: 8.65
PMID:39572588 reported 12 individuals from six unrelated families presenting with a syndromic disease and they were identified with biallelic variants in GPATCH11 gene. Intellectual disability was present in three unrelated families, while global developmental delay was reported in all.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 3 Feb 2025, 10:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 3 Feb 2025, 10:54 p.m.

Panel version: 8.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
Q1_25_ promote_green
Clinvar variants
Variants in GPATCH11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GPATCH11 were changed from neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

3 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: gpatch11 has been classified as Amber List (Moderate Evidence).

3 Feb 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: GPATCH11 were set to 39572588

3 Feb 2025, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ promote_green tag was added to gene: GPATCH11.

3 Feb 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GPATCH11 was added gene: GPATCH11 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPATCH11 were set to 39572588 Phenotypes for gene: GPATCH11 were set to neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: GPATCH11 was set to GREEN